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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612075
http://purl.bioontology.org/ontology/OMIM/612075
|
|---|---|
| Preferred Name | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) |
| Synonyms |
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
MTDPS8B
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED
MTDPS8A
MNGIE, RRM2B-RELATED
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
MTDPS8B
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED
MTDPS8A
MNGIE, RRM2B-RELATED
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE
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| prefLabel | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
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| Gene Symbol |
RRM2B
MTDPS8A
PEOA5
RCDFRD
P53R2
MTDPS8B
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| Scope Statement | Caused by mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene (RRM2B, 604712.0001) [MOLECULAR BASIS]
Some patients have later onset and more variable phenotype (MNGIE) [MISCELLANEOUS]
Onset usually in infancy [MISCELLANEOUS]
Death can occur in infancy [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 8q23.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 612075
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C3150172
C2749862
C2749861
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |